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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 17-75522000-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75522000&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 75522000,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_207346.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN54",
"gene_hgnc_id": 27561,
"hgvs_c": "c.919G>T",
"hgvs_p": "p.Ala307Ser",
"transcript": "NM_207346.3",
"protein_id": "NP_997229.2",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 526,
"cds_start": 919,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000333213.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_207346.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN54",
"gene_hgnc_id": 27561,
"hgvs_c": "c.919G>T",
"hgvs_p": "p.Ala307Ser",
"transcript": "ENST00000333213.11",
"protein_id": "ENSP00000327487.6",
"transcript_support_level": 1,
"aa_start": 307,
"aa_end": null,
"aa_length": 526,
"cds_start": 919,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_207346.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000333213.11"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN54",
"gene_hgnc_id": 27561,
"hgvs_c": "c.919G>T",
"hgvs_p": "p.Ala307Ser",
"transcript": "ENST00000680999.1",
"protein_id": "ENSP00000504984.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 597,
"cds_start": 919,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680999.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN54",
"gene_hgnc_id": 27561,
"hgvs_c": "c.919G>T",
"hgvs_p": "p.Ala307Ser",
"transcript": "ENST00000915433.1",
"protein_id": "ENSP00000585492.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 578,
"cds_start": 919,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915433.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN54",
"gene_hgnc_id": 27561,
"hgvs_c": "c.1048G>T",
"hgvs_p": "p.Ala350Ser",
"transcript": "ENST00000884602.1",
"protein_id": "ENSP00000554661.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 569,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884602.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN54",
"gene_hgnc_id": 27561,
"hgvs_c": "c.919G>T",
"hgvs_p": "p.Ala307Ser",
"transcript": "ENST00000545228.3",
"protein_id": "ENSP00000438169.3",
"transcript_support_level": 5,
"aa_start": 307,
"aa_end": null,
"aa_length": 562,
"cds_start": 919,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545228.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN54",
"gene_hgnc_id": 27561,
"hgvs_c": "c.754G>T",
"hgvs_p": "p.Ala252Ser",
"transcript": "ENST00000915436.1",
"protein_id": "ENSP00000585495.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 542,
"cds_start": 754,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915436.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN54",
"gene_hgnc_id": 27561,
"hgvs_c": "c.886G>T",
"hgvs_p": "p.Ala296Ser",
"transcript": "ENST00000947129.1",
"protein_id": "ENSP00000617188.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 515,
"cds_start": 886,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947129.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN54",
"gene_hgnc_id": 27561,
"hgvs_c": "c.874G>T",
"hgvs_p": "p.Ala292Ser",
"transcript": "ENST00000884603.1",
"protein_id": "ENSP00000554662.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 511,
"cds_start": 874,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884603.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN54",
"gene_hgnc_id": 27561,
"hgvs_c": "c.919G>T",
"hgvs_p": "p.Ala307Ser",
"transcript": "ENST00000884604.1",
"protein_id": "ENSP00000554663.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 489,
"cds_start": 919,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884604.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN54",
"gene_hgnc_id": 27561,
"hgvs_c": "c.919G>T",
"hgvs_p": "p.Ala307Ser",
"transcript": "ENST00000884601.1",
"protein_id": "ENSP00000554660.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 487,
"cds_start": 919,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884601.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN54",
"gene_hgnc_id": 27561,
"hgvs_c": "c.754G>T",
"hgvs_p": "p.Ala252Ser",
"transcript": "ENST00000915434.1",
"protein_id": "ENSP00000585493.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 432,
"cds_start": 754,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915434.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN54",
"gene_hgnc_id": 27561,
"hgvs_c": "c.616G>T",
"hgvs_p": "p.Ala206Ser",
"transcript": "ENST00000434205.8",
"protein_id": "ENSP00000406559.4",
"transcript_support_level": 5,
"aa_start": 206,
"aa_end": null,
"aa_length": 425,
"cds_start": 616,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434205.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "TSEN54",
"gene_hgnc_id": 27561,
"hgvs_c": "c.624-11G>T",
"hgvs_p": null,
"transcript": "ENST00000947128.1",
"protein_id": "ENSP00000617187.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 424,
"cds_start": null,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947128.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TSEN54",
"gene_hgnc_id": 27561,
"hgvs_c": "c.895+45G>T",
"hgvs_p": null,
"transcript": "ENST00000915435.1",
"protein_id": "ENSP00000585494.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 407,
"cds_start": null,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915435.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "TSEN54",
"gene_hgnc_id": 27561,
"hgvs_c": "c.874+45G>T",
"hgvs_p": null,
"transcript": "ENST00000915432.1",
"protein_id": "ENSP00000585491.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 400,
"cds_start": null,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915432.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN54",
"gene_hgnc_id": 27561,
"hgvs_c": "n.879G>T",
"hgvs_p": null,
"transcript": "ENST00000578415.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000578415.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN54",
"gene_hgnc_id": 27561,
"hgvs_c": "n.718G>T",
"hgvs_p": null,
"transcript": "ENST00000579449.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000579449.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN54",
"gene_hgnc_id": 27561,
"hgvs_c": "n.1122G>T",
"hgvs_p": null,
"transcript": "ENST00000580013.6",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000580013.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN54",
"gene_hgnc_id": 27561,
"hgvs_c": "n.1500G>T",
"hgvs_p": null,
"transcript": "ENST00000679370.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000679370.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN54",
"gene_hgnc_id": 27561,
"hgvs_c": "n.*377G>T",
"hgvs_p": null,
"transcript": "ENST00000679429.1",
"protein_id": "ENSP00000505403.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000679429.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TSEN54",
"gene_hgnc_id": 27561,
"hgvs_c": "n.988G>T",
"hgvs_p": null,
"transcript": "ENST00000679443.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000679443.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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{
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"intron_variant"
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{
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],
"gene_symbol": "TSEN54",
"gene_hgnc_id": 27561,
"dbsnp": "rs113994152",
"frequency_reference_population": 0.0013075189,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2086,
"gnomad_exomes_af": 0.0013512,
"gnomad_genomes_af": 0.000893385,
"gnomad_exomes_ac": 1950,
"gnomad_genomes_ac": 136,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.043872326612472534,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.5199999809265137,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": 0.342,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2412,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.118,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.52,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PP3,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PP3",
"PP5_Very_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_207346.3",
"gene_symbol": "TSEN54",
"hgnc_id": 27561,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.919G>T",
"hgvs_p": "p.Ala307Ser"
}
],
"clinvar_disease": "Amblyopia,Congenital cerebellar hypoplasia,Global developmental delay,Hypertonia,Inborn genetic diseases,Intellectual disability,Methylmalonic aciduria and homocystinuria type cblD,Microcephaly,Olivopontocerebellar hypoplasia,Pontocerebellar hypoplasia type 2,Pontocerebellar hypoplasia type 2A,Pontocerebellar hypoplasia type 4,Pontocerebellar hypoplasia type 5,Pontoneocerebellar hypoplasia,TSEN54 Pontocerebellar Hypoplasia,TSEN54-related disorder,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:33 O:2",
"phenotype_combined": "Pontocerebellar hypoplasia type 2A|Olivopontocerebellar hypoplasia|Pontocerebellar hypoplasia type 4|Pontocerebellar hypoplasia type 5|not provided|Microcephaly;Global developmental delay|Pontocerebellar hypoplasia type 2A;Pontocerebellar hypoplasia type 4|Congenital cerebellar hypoplasia|Inborn genetic diseases|Amblyopia;Global developmental delay;Hypertonia|Pontoneocerebellar hypoplasia|Intellectual disability|Pontocerebellar hypoplasia type 2;Pontocerebellar hypoplasia type 4|Pontocerebellar hypoplasia type 2A;Pontocerebellar hypoplasia type 5;Pontocerebellar hypoplasia type 4|Pontocerebellar hypoplasia type 5;Pontocerebellar hypoplasia type 4;Methylmalonic aciduria and homocystinuria type cblD|TSEN54 Pontocerebellar Hypoplasia|TSEN54-related disorder",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}